title: APECED-causing mutations in AIRE reveal the functional domains of the protein.
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics; D000818:Animals; D019556:COS Cells / Q000737:chemistry / Q000166:cytology; D002522:Chlorocebus aethiops; D002874:Chromosome Mapping; D006801:Humans; D042541:Intracellular Space / Q000737:chemistry; D016350:Leucine Zippers / Q000235:genetics / Q000502:physiology; D008957:Models, Genetic; D008961:Models, Structural; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics* / Q000502:physiology; D020125:Mutation, Missense / Q000235:genetics; D010455:Peptides / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics*; D020836:Protein Structure, Quaternary / Q000235:genetics / Q000502:physiology; D017434:Protein Structure, Tertiary / Q000235:genetics / Q000502:physiology; D017386:Sequence Homology, Amino Acid; D015534:Trans-Activators / Q000235:genetics / Q000378:metabolism; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism / Q000502:physiology*; D000096927:AIRE Protein
chemical_list: D010455:Peptides; D015534:Trans-Activators; D014157:Transcription Factors; D000096927:AIRE Protein